Metacarpophalangeal pattern profile analysis in Brachmann‐de Lange syndrome

Abstract

We analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a correct classification rate of 100% based on a function of 2 MCPP variables that may provide a useful tool for assisting in the diagnosis of BDLS. An average pattern variability index calculated for the BDLS patients was 1.9 indicating an abnormal hand pattern in this syndrome.

Male‐to‐male transmission of mild Bachmann‐de Lange syndrome

“…A hand profile score determined using the methods described by Halal and Preus [19791 was 19. This is consistent with the diagnosis of BDLS. A discriminant value determined according to the methods of Butler et al [1993] was -2.32 which is also consistent with the diagnosis of BDLS. Results of growth hormone and thyroid studies in the boy were normal.…”

“…Our propositus had a MPP score of 19, consistent with the diagnosis. Butler et al [1993] studied MPPs on 19 BDLS patients and 41 normal control individuals and developed a discriminant function to separate the two groups. Again, our patient fell into the BDLS group according to this discriminant function.…”

Orthopaedic manifestations of Brachmann–de Lange syndrome: a report of 34 patients

“…Van Allan et al [6] classified the features of BDLS into three types based on clinical variability. The middle phalanx of the index finger may be hypoplastic [8,21]. These cases have profound psychomotor delay and major malformations in several organ systems, and are early lethal.…”

“…Anomalies of the hand are particularly characteristic; short metacarpal bones, especially the first metacarpal, and equal on both sides, represent the typical finding [4,8,9]. Anomalies of the hand are particularly characteristic; short metacarpal bones, especially the first metacarpal, and equal on both sides, represent the typical finding [4,8,9].…”

SPONASTRIME dysplasia: Report of an 11-year-old boy and review of the literature

“…A metacarpophalangeal pattern profile (MCPP) analysis was also performed on this subject by measuring the individual 19 hand bones in millimeters with a vernier caliper from a hand radiograph obtained at 6 years 7 months of age and then comparing them to bone-length standards (appropriate for age and sex) published by Garn et al [1972] (White Americans, age 2 years to adulthood) and Poznanski et al [1972] (Gefferth Hungarian sample, birth to 15 months). Through these comparisons, Z score values for the 19 bones were obtained (Z score ‫ס‬ observed bone length − mean bone length/SD) [Butler et al, 1986;Butler et al, 1988;Butler et al, 1993]. The MCPP for our patient in Fig.…”